Friedreich ataxia


Introduction to Friedreich Ataxia Friedreich'sataxia (FRDA) is a rare genetic ataxia with autosomal recessive inheritance, the second half of the spinal cord and cerebellar degenerative disease, with an incidence of about 1-2. /100,000 people. The age of development is adolescents, and individual cases are ill after adulthood. The age of onset of the same family is about the same, but the severity is different. Symptoms gradually rise, the most common symptoms are ataxia of both lower extremities, gait sputum, commonly used upper limb swing compensation to maintain body balance. Standing is also shaking and not stable, not necessarily due to closing your eyes. basic knowledge The proportion of illness: 0.003% Susceptible people: good for teenagers Mode of infection: non-infectious Complications: Cardiomyopathy Malnutrition


The cause of Friedreich's ataxia


The disease is a hereditary disease. In pathology, the spinal cord is thinner than normal and the cerebellum is slightly atrophied. The histological changes of the spinal cord are characterized by posterior spinal cord, lateral corticospinal tract, and degeneration of the spinal cord cerebellum. The lesions are obvious, accompanied by extensive gliosis, the cerebellum and brainstem are normal, the pons and medulla may shrink, the cerebral cortex has no obvious changes, the lower part of the spinal cord lesion is heavy, and the medulla is gradually reduced.


Friedreich Ataxia Prevention

The disease is a congenital genetic disease. The use of DNA diagnosis for timely prenatal diagnosis and selective abortion is a fundamental measure to prevent and treat this disease. Maintain emotional stability, avoid emotional excitement and tension, adjust daily life and workload, and regularly exercise and exercise to avoid fatigue.


Friedreich ataxia complications Complications, cardiomyopathy, malnutrition

Typical Friedreich ataxia is more common before the age of 25, the symptoms gradually worsen, loss of mobility after 9 to 16 years after onset, mostly from repeated infections or cardiomyopathy, valvular heart disease, myocardial malnutrition, heart block and Heart failure can be the cause of sudden death of the disease.


Friedreich ataxia symptoms common symptoms sensory ataxia gait involuntary movement ataxia sensory disturbance block

The age of the disease is adolescents. Individual cases are ill after adulthood. The age of onset of the same family is about the same, but the severity is different. The main symptoms are as follows:

1, the symptoms gradually rise, the most common symptoms are ataxia of the lower extremities, gait sputum, commonly used upper limb swing compensation to maintain the body balance, standing is also shaking unstable, not necessarily due to closed eyes and increased.

2, as the disease progresses, the torso and upper limbs also have ataxia, written and scribbled, and even unable to write, may have limb and head tremor, or dance-like or myoclonic involuntary movement.

3, about 70% of patients with this disease have nystagmus, horizontal, vertical, rotational can occur, speech disorders are also the characteristics of this disease, slow speech, monotonous ambiguity, or intermittent, bursting, Or the pronunciation is too slow and long, and sometimes too fast.

4, the soft reflex of the calf disappears, the upper limb reflex exists in the early stage, the late can disappear, the tendon reflex is often extensive, the pyramidal beam damage can also increase the muscle tension, and the mutual ectopic gait can be transformed into the squat gait.

5, the limb occasionally lightning-like pain, but there is no objective shallow sensory disturbance, positional awareness and tremor is slow or disappear, the lower limbs are heavy.

6, in addition to optic atrophy, retinal pigmentation, drooping eyelids, pupillary reflex abnormalities and eye muscle spasm, occasional hearing, vestibular dysfunction and difficulty swallowing.

7, the disease may have autonomic nervous system disorders, tachycardia, nausea, vomiting, hypothermia, diabetes, sexual dysfunction, sphincter dysfunction, bone changes for the posterior scoliosis, arched foot, horseshoe varus.

8, heart disease into heart enlargement, heart murmur, EKG abnormalities, heart valve disease, myocardial malnutrition, heart block and heart failure can be the cause of sudden death of this disease.


Friedreich Ataxia Check

Physical examination can be found that the first symptoms of the disease are body and limb ataxia, sputum reflexes disappear, deep sensory disturbance and pathological reflex positive, occasionally optic atrophy, neurological deafness, mild dementia, skeletal malformation is also the characteristics of this disease One, if there is a typical spinal cord, lateral cord and cerebellar symptoms; skeletal system malformation; cardiac organic damage, etc. can be clearly diagnosed.

The results of the imaging examination also have a certain diagnosis of the diagnosis of this disease:

1. X-ray films of the corresponding parts of the arched foot scoliosis were changed.

2. Skull MRI has a definite diagnosis value for OPCA.


Diagnosis and identification of Friedreich ataxia

Diagnosis can be based on medical history, clinical symptoms, and laboratory tests.

The disease mainly needs to be differentiated from cervical spondylotic myelopathy.

The gait of this disease is unstable, the hand has fine movement disorder, and the muscle tension is increased when the cone is not affected. The pathological reflex is similar to cervical spondylotic myelopathy, but the latter has no ataxia, no cranial nerve involvement, no speech disorder, MRI More showed cervical degenerative stenosis.

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